Canonical Allele Identifier: CA2585307995

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41422293-CCAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422298_41422300del , CM000681.2:g.41422298_41422300del	GRCh38
NC_000019.9:g.41928203_41928205del , CM000681.1:g.41928203_41928205del	GRCh37
NC_000019.8:g.46620043_46620045del	NCBI36
NG_013004.1:g.29510_29512del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.781_783del MANE Select	ENSP00000269980.2:p.Ile261del
ENST00000269980.6:c.781_783del	ENSP00000269980.2:p.Ile261del
ENST00000457836.6:c.715_717del	ENSP00000416000.2:p.Ile239del
ENST00000535632.5:n.410_412del
ENST00000540732.3:c.883_885del	ENSP00000443246.1:p.Ile295del
ENST00000542943.5:c.694_696del	ENSP00000440345.1:p.Ile232del
ENST00000545787.1:n.409_411del
ENST00000595085.5:c.781_783del	ENSP00000471150.2:p.Ile261del
NM_000709.3:c.781_783del	NP_000700.1:p.Ile261del
NM_001164783.1:c.781_783del	NP_001158255.1:p.Ile261del
NM_000709.4:c.781_783del MANE Select	NP_000700.1:p.Ile261del
NM_001164783.2:c.781_783del	NP_001158255.1:p.Ile261del